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Chromosome Analysis Peripherial Blood (Constitutional)

Test Code

CYTO PB

Test Synonyms

Chromosome analysis, cytogenetic analysis, karyotyping

Methodology

Analysis of cultured lymphocytes using G-banding, STAT studies available

Turnaround Time

5-7 days

Specimen Requirements

5 mL sodium heparin tube
1 mL (newborn blood)
2 mL (percutaneous umbilical blood)
Fixed cytogenetically prepared cells in sterile centrifuge tube with 3:1, Methanol:Acetic Acid. Pellet must be visible for the volume part and the medium part 3:1, Methanol:Acetic Acid.

Specimen Stability
4°C to 25°C, specimens (peripheral blood) are stable up to 72 hours
Fixed cell pellets are stable for years when stored at -28 °C to 15 °C
Storage & Handling

4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

46,XY: normal male / 46,XX: normal female

Description

Cytogenetic analysis of peripheral blood lymphocytes is performed to detect numerical or structural chromosome abnormalities. There are many indications for performing chromosome studies. These include multiple congenital abnormalities, mental retardation of unknown etiology, unexplained minor or major malformations, abnormalities of sexual development, abnormalities of growth, and features of a recognized genetic syndrome.

Chromosome analysis may also be warranted in individuals with apparent infertility or recurrent pregnancy loss. Individuals at risk of having a chromosome abnormality due to a positive family history should also be offered cytogenetic studies. Adjunct studies such as fluorescence in situ hybridization (FISH) can also be performed on cytogenetic preparations obtained from peripheral blood.

References
  1. Nussbaum et al. (2001). Thompson and Thompson: Genetics in Medicine. WB Saunders: Philadelphia, Pennsylvania.